1. Almeida TS, Lamb ME, Weisblatt EJ. {{Effects of Delay, Question Type, and Socioemotional Support on Episodic Memory Retrieval by Children with Autism Spectrum Disorder}}. {Journal of autism and developmental disorders}. 2018.
Twenty-seven autistic children and 32 typically developing (TD) peers were questioned about an experienced event after a two-week delay and again after a two-month delay, using the Revised National Institute of Child Health and Human Development (NICHD) Investigative Interview Protocol. Recall prompts elicited more detailed and more accurate responses from children than recognition prompts. Autistic children recalled fewer correct narrative details than TD peers when questioned using open invitations, cued invitations, and directive questions. Nonetheless, they were as accurate as TD peers when responding to all types of prompts. The informativeness and accuracy of children’s reports remained unchanged over time. Social support was beneficial when children were interviewed for the first time but not after a longer delay.
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2. Broder-Fingert S, Qin S, Goupil J, Rosenberg J, Augustyn M, Blum N, Bennett A, Weitzman C, Guevara JP, Fenick A, Silverstein M, Feinberg E. {{A mixed-methods process evaluation of Family Navigation implementation for autism spectrum disorder}}. {Autism : the international journal of research and practice}. 2018: 1362361318808460.
There is growing interest in Family Navigation as an approach to improving access to care for children with autism spectrum disorder, yet little data exist on the implementation of Family Navigation. The aim of this study was to identify potential failures in implementing Family Navigation for children with autism spectrum disorder, using a failure modes and effects analysis. This mixed-methods study was set within a randomized controlled trial testing the effectiveness of Family Navigation in reducing the time from screening to diagnosis and treatment for autism spectrum disorder across three states. Using standard failure modes and effects analysis methodology, experts in Family Navigation for autism spectrum disorder (n = 9) rated potential failures in implementation on a 10-point scale in three categories: likelihood of the failure occurring, likelihood of not detecting the failure, and severity of failure. Ratings were then used to create a risk priority number for each failure. The failure modes and effects analysis detected five areas for potential « high priority » failures in implementation: (1) setting up community-based services, (2) initial family meeting, (3) training, (4) fidelity monitoring, and (5) attending testing appointments. Reasons for failure included families not receptive, scheduling, and insufficient training time. The process with the highest risk profile was « setting up community-based services. » Failure in « attending testing appointment » was rated as the most severe potential failure. A number of potential failures in Family Navigation implementation-along with strategies for mitigation-were identified. These data can guide those working to implement Family Navigation for children with autism spectrum disorder.
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3. Cechmanek B, Johnson H, Vazhappilly S, Lebel C, Bray S. {{Somatosensory regions show limited functional connectivity differences in youth with Autism Spectrum Disorder}}. {Brain connectivity}. 2018.
An estimated 70-90% of children with Autism Spectrum Disorder (ASD) have sensory symptoms, which may present as hyper- or hypo-responsivity in one or more sensory modalities. These sensitivities correlate with social symptoms, activity and social interaction levels. Interestingly, sensory symptoms appear to be most prevalent in late childhood, suggesting a developmental component. While the neural basis of sensory sensitivities remains unclear, atypical functional connectivity of sensory brain regions has been suggested as a potential mechanism. Tactile sensitivities are among the most predictive of social functioning, yet no studies to our knowledge have examined somatosensory functional connectivity in children and adolescents with ASD, when symptoms are typically most prominent. Here, we used human data from the Autism Brain Imaging Data Exchange (ABIDE-I) to assess functional connectivity differences of somatosensory regions during resting state functional magnetic resonance imaging (fMRI), in youth aged 8-15 years. After head-motion exclusion our sample included 67 participants with ASD and 121 typically developing (TD) controls. We additionally examined associations between functional connectivity and age, as well as ASD symptom severity. Together, these seed-based analyses showed limited differences in functional connectivity between groups, either to hypothesized target regions or in terms of global connectivity. Our findings suggest that hyper-or hypo- somatosensory functional connectivity at rest is not a population-level feature in ASD. However, this does not preclude increased variability of somatosensory networks across the ASD population. Further, as sensory sensitivities were not specifically assessed in this sample, future studies may be better able to identify patterns of functional connectivity reflecting individual differences in sensory symptoms.
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4. Dababnah S, Habayeb S, Bear BJ, Hussein D. {{Feasibility of a trauma-informed parent-teacher cooperative training program for Syrian refugee children with autism}}. {Autism : the international journal of research and practice}. 2018: 1362361318805368.
Although the number of Syrians affected by the civil war rises, little work has been done to address the needs of Syrian refugee children with autism spectrum disorder. This research aimed to test the feasibility and acceptability of a culturally sensitive intervention developed specifically for children with autism spectrum disorder affected by trauma. Local partners advised the program team on cultural norms. Nine parents and 11 teachers were recruited to participate in 12-week parent-teacher cooperatives in a large Turkish city. We used qualitative methods to analyze interviews with each participant after intervention completion. A total of 14 participants completed the program (70%). All interviewees were women and Syrian refugees. Local political events, transportation costs and safety, and illnesses impacted attrition and attendance. All participants were satisfied with program content, including gains in autism knowledge, behavior management skills, and social support. Program-related challenges included applying skills to nonverbal children. The majority of participants made recommendations for program improvement, including a need for services outside urban areas. Flexible program delivery methods, including online options, might better accommodate participants unable to travel due to distance, political unrest, or safety. More research is needed to rigorously test program outcomes and to evaluate efforts to train local program leaders.
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5. Fage C, Consel CY, Balland E, Etchegoyhen K, Amestoy A, Bouvard M, Sauzeon H. {{Tablet Apps to Support First School Inclusion of Children With Autism Spectrum Disorders (ASD) in Mainstream Classrooms: A Pilot Study}}. {Frontiers in psychology}. 2018; 9: 2020.
The inclusion of children with autism spectrum disorders (ASD) in mainstream classrooms is dramatically impeded by their difficulties in socio-adaptive behaviors. This paper presents a package of mobile applications consisting of both assistive and cognitive rehabilitation applications to support first school inclusion of children with ASD. These applications have been tested in a 3-month intervention in mainstream schools and at home, involving 50 participants (30 children with ASD, half of which was equipped and 20 equipped children with intellectual deficiencies). Benefits on socio-adaptive behaviors and social response in school settings, and socio-cognitive functioning have been assessed. The main results showed that equipped children with ASD improved their socio-adaptive behaviors and their social-response in school settings. Both equipped groups increased their socio-cognitive functioning.
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6. Fourie C, Vyas Y, Lee K, Jung Y, Garner CC, Montgomery JM. {{Dietary Zinc Supplementation Prevents Autism Related Behaviors and Striatal Synaptic Dysfunction in Shank3 Exon 13-16 Mutant Mice}}. {Frontiers in cellular neuroscience}. 2018; 12: 374.
The SHANK family of synaptic proteins (SHANK1-3) are master regulators of the organizational structure of excitatory synapses in the brain. Mutations in SHANK1-3 are prevalent in patients with autism spectrum disorders (ASD), and loss of one copy of SHANK3 causes Phelan-McDermid Syndrome, a syndrome in which Autism occurs in >80% of cases. The synaptic stability of SHANK3 is highly regulated by zinc, driving the formation of postsynaptic protein complexes and increases in excitatory synaptic strength. As ASD-associated SHANK3 mutations retain responsiveness to zinc, here we investigated how increasing levels of dietary zinc could alter behavioral and synaptic deficits that occur with ASD. We performed behavioral testing together with cortico-striatal slice electrophysiology on a Shank3 (-/-) mouse model of ASD (Shank3 (ex13-1616-/-)), which displays ASD-related behaviors and structural and functional deficits at striatal synapses. We observed that 6 weeks of dietary zinc supplementation in Shank3 (ex13-16-/-) mice prevented ASD-related repetitive and anxiety behaviors and deficits in social novelty recognition. Dietary zinc supplementation also increased the recruitment of zinc sensitive SHANK2 to synapses, reduced synaptic transmission specifically through N-methyl-D-aspartate (NMDA)-type glutamate receptors, reversed the slowed decay tau of NMDA receptor (NMDAR)-mediated currents and occluded long term potentiation (LTP) at cortico-striatal synapses. These data suggest that alterations in NMDAR function underlie the lack of NMDAR-dependent cortico-striatal LTP and contribute to the reversal of ASD-related behaviors such as compulsive grooming. Our data reveal that dietary zinc alters neurological function from synapses to behavior, and identifies dietary zinc as a potential therapeutic agent in ASD.
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7. Fukui T, Sano M, Tanaka A, Suzuki M, Kim S, Agarie H, Fukatsu R, Nishimaki K, Nakajima Y, Wada M. {{Older Adolescents and Young Adults With Autism Spectrum Disorder Have Difficulty Chaining Motor Acts When Performing Prehension Movements Compared to Typically Developing Peers}}. {Frontiers in human neuroscience}. 2018; 12: 430.
It is known that motor actions performed by individuals with autism spectrum disorders (ASD) are clumsy and a previous study revealed that children with ASD of around 8 years old showed less smooth movement and dysfunction of appropriate usage of online vision for grip aperture control. The present study investigates whether and how the kinematic properties of reach-to-grasp movements in older adolescents and adults with ASD [mean (+/-SD) age: 18.3 +/- 2.1] differ from those in typically developing (TD) peers [mean (+/-SD) age: 19.1 +/- 2.2]. Revealing the kinematic properties of reach-to-grasp movements in older adolescents and adults with ASD is indispensable in determining the developmental trajectory of this motor behavior in individuals with ASD. While wearing liquid crystal shutter goggles, participants reached for and grasped a cylinder with a diameter of either 4 or 6 cm. Two visual conditions were tested: a full vision (FV) condition (the goggles remained transparent during the movement) and a no vision (NV) condition (the goggles were closed immediately after the movement was initiated). These two visual conditions were either alternated with each trial in a single experimental session (alternated condition) or blocked within the session (blocked condition). We found that the reaching movement smoothness calculated as a normalized jerk score (i.e., index of skilled, coordinated human movements) of ASD participants did not differ significantly from that of TD peers although ASD participants showed smoother reaching in the alternated condition than in the blocked condition. The influence of online vision and its visual condition schedule on grip aperture during the in-flight phase was remarkably similar between the ASD and TD groups. Furthermore, we found that ASD group experienced a significant longer transition period from grasping end (i.e., stable holding when touching the surface of the object) to uplift initiation than the TD group. The results suggest that (1) deficits in movement smoothness and the use of online vision for motor control are rectified by the time individuals with ASD reach late adolescence and (2) older adolescents and adults with ASD still have difficulties chaining motor acts.
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8. Gadow KD, Garman HD. {{Social Anhedonia in Children and Adolescents with Autism Spectrum Disorder and Psychiatry Referrals}}. {Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53}. 2018: 1-12.
Social anhedonia (SA) is a widely accepted symptom phenotype in autism spectrum disorder (ASD), depression, and schizophrenia spectrum disorder; nevertheless, its clinical implications are relatively unstudied in populations of clinic-referred youth with and without ASD. Youth with ASD (n = 268) and nonASD psychiatry referrals (n = 641) between 6 and 18 years of age were evaluated for SA, ASD severity, co-occurring psychiatric symptom severity, and a wide range of common clinical correlates. Participants were parsed into youth with and without parent-defined SA, and the latter were further subdivided into youth with (SA+ alone) and without (SA/-alone) a preference for being alone. Two thirds of the ASD group met criteria for SA compared with one fourth of psychiatry referrals. SA was associated with higher rates of ASD social skill deficits, social anxiety, depression, and schizophrenia symptoms in both clinic samples. SA+ alone had the highest rates of social anxiety. Among the ASD sample, severity of social anxiety and ASD social skills deficits were relatively small predictors of SA. There was little evidence of divergence between youth with and without SA for a wide range of commonly studied biopsychosocial clinical correlates, for example, youth, family, medical, and treatment characteristics. Although factors associated with the ASD diathesis contribute to an increased risk of SA, they do not in and of themselves explain our results. Lack of syndrome specificity supports the notion that SA is a useful transdiagnostic symptom phenotype in referred youth and challenges traditional conceptualizations of ASD as a categorical clinical phenotype.
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9. Gilmore S, Frederick LK, Santillan L, Locke J. {{The games they play: Observations of children with autism spectrum disorder on the school playground}}. {Autism : the international journal of research and practice}. 2018: 1362361318811987.
The playground may be an important context to examine the social functioning of children with autism spectrum disorder. Previous literature on playground peer engagement has used quantitative methods, but there is limited research using qualitative observations to understand the nuances of playground behavior. Using a mixed-methods approach, 55 elementary school-aged children with autism spectrum disorder who are primarily included in general education settings were observed on the school playground using the Playground Observation of Peer Engagement. Quantitative and qualitative data were examined using a mixed-methods approach. The results showed that children with autism spectrum disorder: engage in solitary and peripheral activities; demonstrate appropriate initiations and responses to peers; display self-stimulatory, motoric behaviors most frequently during solitary activities; and often have neutral affect on the playground. These findings suggest that intervention and supports for children with autism spectrum disorder may be important to deliver at recess to address peer engagement.
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10. Leroy G, Gu Y, Pettygrove S, Galindo MK, Arora A, Kurzius-Spencer M. {{Automated Extraction of Diagnostic Criteria From Electronic Health Records for Autism Spectrum Disorders: Development, Evaluation, and Application}}. {Journal of medical Internet research}. 2018; 20(11): e10497.
BACKGROUND: Electronic health records (EHRs) bring many opportunities for information utilization. One such use is the surveillance conducted by the Centers for Disease Control and Prevention to track cases of autism spectrum disorder (ASD). This process currently comprises manual collection and review of EHRs of 4- and 8-year old children in 11 US states for the presence of ASD criteria. The work is time-consuming and expensive. OBJECTIVE: Our objective was to automatically extract from EHRs the description of behaviors noted by the clinicians in evidence of the diagnostic criteria in the Diagnostic and Statistical Manual of Mental Disorders (DSM). Previously, we reported on the classification of entire EHRs as ASD or not. In this work, we focus on the extraction of individual expressions of the different ASD criteria in the text. We intend to facilitate large-scale surveillance efforts for ASD and support analysis of changes over time as well as enable integration with other relevant data. METHODS: We developed a natural language processing (NLP) parser to extract expressions of 12 DSM criteria using 104 patterns and 92 lexicons (1787 terms). The parser is rule-based to enable precise extraction of the entities from the text. The entities themselves are encompassed in the EHRs as very diverse expressions of the diagnostic criteria written by different people at different times (clinicians, speech pathologists, among others). Due to the sparsity of the data, a rule-based approach is best suited until larger datasets can be generated for machine learning algorithms. RESULTS: We evaluated our rule-based parser and compared it with a machine learning baseline (decision tree). Using a test set of 6636 sentences (50 EHRs), we found that our parser achieved 76% precision, 43% recall (ie, sensitivity), and >99% specificity for criterion extraction. The performance was better for the rule-based approach than for the machine learning baseline (60% precision and 30% recall). For some individual criteria, precision was as high as 97% and recall 57%. Since precision was very high, we were assured that criteria were rarely assigned incorrectly, and our numbers presented a lower bound of their presence in EHRs. We then conducted a case study and parsed 4480 new EHRs covering 10 years of surveillance records from the Arizona Developmental Disabilities Surveillance Program. The social criteria (A1 criteria) showed the biggest change over the years. The communication criteria (A2 criteria) did not distinguish the ASD from the non-ASD records. Among behaviors and interests criteria (A3 criteria), 1 (A3b) was present with much greater frequency in the ASD than in the non-ASD EHRs. CONCLUSIONS: Our results demonstrate that NLP can support large-scale analysis useful for ASD surveillance and research. In the future, we intend to facilitate detailed analysis and integration of national datasets.
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11. Lewton M, Ashwin C, Brosnan M. {{Syllogistic reasoning reveals reduced bias in people with higher autistic-like traits from the general population}}. {Autism : the international journal of research and practice}. 2018: 1362361318808779.
Recent theories of autism have emphasised the cognitive strengths and weaknesses in those with autism, which are also seen to some degree in non-clinical samples with higher autistic-like traits. The dual process theory of autism proposes that people with autism and non-clinical people with a higher degree of autistic-like traits have a propensity to show reduced intuitive processing (automatic and typically faster) alongside enhanced propensity towards deliberative processing (dependent on general cognitive ability and typically slower). This study aimed to further test the dual process theory of autism by investigating syllogistic reasoning (whether a conclusion can be logically deduced from two propositions) in addition to the cognitive reflection test (correct responses to which reflect deliberative processing over-riding intuitive processing) with respect to the degree of autistic-like traits and general cognitive ability in a non-clinical sample of 189 adults. Results showed that higher levels of autistic-like traits were related to lower levels of intuitive processing and higher levels of deliberative processing, which was found across both the syllogistic reasoning and cognitive reflection test measures – over and above the effect of general cognitive ability. The findings are consistent with the dual process theory of autism, and implications for autism are discussed.
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12. Li G, Rossbach K, Jiang W, Zhao L, Zhang K, Du Y. {{Reduction in grey matter volume and its correlation with clinical symptoms in Chinese boys with low functioning autism spectrum disorder}}. {Journal of intellectual disability research : JIDR}. 2018.
BACKGROUND: Previous studies have reported changes within grey matter (GM) volume in children with autism spectrum disorder (ASD); however, little is known about GM volume changes and the relation with symptom severity in Chinese boys with low functioning autism spectrum disorder (LFASD). METHOD: GM volume was analysed using SPM 8 and compared between 16 boys with LFASD as well as 16 typically developing (TD) boys (using REST 1.8). Additionally, the correlation between GM volume and clinical symptoms was analysed, using subscales within the Autism Behaviour Checklist (ABC). RESULTS: The comparison showed a reduced volume of GM in 11 clusters in the boys with LFASD (i.e., the left inferior frontal gyrus, orbital part; right superior temporal gyrus, superior frontal gyrus, dorsolateral; precuneus and postcentral; bilateral rectus and middle temporal gyrus) and 1 area with increased GM volume (right caudate) compared to the TD group. Additionally, the GM volume of the left inferior frontal gyrus, orbital part was negatively correlated with the Social subscale score of the ABC (r = -0.765, P = 0.002), and the GM volume of the left Rectus was negatively associated with the Language, Body concept and Self-care subscale scores and the total score on the ABC(r = -0.624, P = 0.023; r = -0.657, P = 0.011; r = -0.618, P = 0.025; r = -0.625, P = 0.022). Further, the GM volume of the right Caudate was negatively correlated with the Sensory subscale on the ABC (r = -0.593, P = 0.033). CONCLUSION: In conclusion, the current study’s findings display that the GM volume was widely reduced in Chinese boys with LFASD compared to TD boys and negatively correlated with the clinical symptoms, indicating a possible pathological mechanism of LFASD.
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13. Miller LE, Burke JD, Robins DL, Fein DA. {{Diagnosing Autism Spectrum Disorder in Children with Low Mental Age}}. {Journal of autism and developmental disorders}. 2018.
Autism Spectrum Disorder (ASD) diagnostic tools are not designed for mental ages (MA) below 12 months. Autism Diagnostic Observation Schedule (ADOS) and Childhood Autism Rating Scale (CARS) were examined in 2-year-olds with ASD-low MA (n = 53), Global Developmental Delay (GDD; n = 175), and ASD-higher MA (n = 425). ADOS and CARS demonstrated similar agreement with clinical diagnosis, but ADOS over-classified ASD in low MA, whereas CARS both over- and under-classified. All ADOS items differentiated GDD from ASD. Elementary social behaviors (e.g., eye contact, social interest) were similar across ASD groups, although advanced skills (e.g., pointing, play) were more impaired in ASD-low MA. ASD-low MA, a severe presentation, may require a modified ADOS algorithm to account for developmental delays.
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14. Neil L, White H, Warren K, Pellicano E. {{Anxiety and Interpretation of Ambiguity in Autistic Children, Typical Children and Their Mothers}}. {Journal of autism and developmental disorders}. 2018.
Anxiety is highly prevalent in autistic children. Yet interpretation biases implicated in anxiety in non-autistic individuals have received little research attention in this group. Twenty-two autistic children and 25 typical children completed an ambiguous scenarios interview and questionnaire-based measures of anxiety. A subsample of mothers completed parent-report and adult relevant versions of the interview and anxiety questionnaires. Autistic children self-reported similar interpretations of ambiguous scenarios, and similar levels of anxiety, to their typical peers. In contrast, mothers of autistic children reported greater levels of anxiety, and more negative interpretations of ambiguous scenarios in both their children and themselves, relative to mothers of typical children. These data highlight the importance of including autistic children’s self-reports when measuring and treating anxiety.
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15. Neuhaus E, Bernier RA, Tham SW, Webb SJ. {{Gastrointestinal and Psychiatric Symptoms Among Children and Adolescents With Autism Spectrum Disorder}}. {Frontiers in psychiatry}. 2018; 9: 515.
Individuals with autism spectrum disorder (ASD) are at heightened risk of psychiatric comorbidities across the lifespan, including elevated rates of internalizing, externalizing, and self-injurious behaviors. Identification of medical comorbidities that contribute to these concerns may elucidate mechanisms through which psychiatric concerns arise, as well as offer additional avenues for intervention. Gastrointestinal (GI) conditions are of particular interest, as they are prevalent among those with ASD, may share genetic or neurobiological etiologies with the core features of ASD, and are linked with psychiatric difficulties in the general population. In this paper, we draw on data from nearly 2,800 children and adolescents with ASD within the Simons Simplex Collection to characterize the unique contributions of (1) autism symptoms, (2) psychosocial factors (child’s age, sex, verbal and nonverbal IQ, adaptive behavior, race, and household income), and (3) GI concerns with respect to multiple psychiatric outcomes. Multiple regression models revealed unique contributions of ASD symptoms and multiple psychosocial factors such as verbal IQ, adaptive behavior, and family income to internalizing, externalizing, and self-injurious behavior. In general, higher levels of psychiatric symptoms were associated with more ASD symptoms, higher verbal IQ, lower adaptive behavior skills, and lower family income. Furthermore, levels of GI symptoms accounted for unique variance in psychiatric outcomes over and above these other factors, linking increased GI problems with increased psychiatric symptoms in children with ASD. Taken together, results indicate that the presence and quantity of GI symptoms should be considered when evaluating psychiatric and behavioral concerns among children with ASD, and that treatment of GI conditions may be an important component in alleviating a broad array of mental health concerns in this group.
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16. Nickel K, Tebartz van Elst L, Manko J, Unterrainer J, Rauh R, Klein C, Endres D, Kaller CP, Mader I, Riedel A, Biscaldi M, Maier S. {{Inferior Frontal Gyrus Volume Loss Distinguishes Between Autism and (Comorbid) Attention-Deficit/Hyperactivity Disorder-A FreeSurfer Analysis in Children}}. {Frontiers in psychiatry}. 2018; 9: 521.
Objective: Autism spectrum (ASD) and attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental disorders with a high rate of comorbidity. To date, diagnosis is based on clinical presentation and distinct reliable biomarkers have been identified neither for ASD nor ADHD. Most previous neuroimaging studies investigated ASD and ADHD separately. Method: To address the question of structural brain differences between ASD and ADHD, we performed FreeSurfer analysis in a sample of children with ADHD (n = 30), with high-functioning ASD (n = 14), with comorbid high-functioning ASD and ADHD (n = 15), and of typically developed controls (TD; n = 36). With FreeSurfer, an automated brain imaging processing and analyzing suite, we reconstructed the cerebral cortex and calculated gray matter volumes as well as cortical surface parameters in terms of cortical thickness and mean curvature. Results: A significant main effect of the factor ADHD was detected for the left inferior frontal gyrus (Pars orbitalis) volume, with the ADHD group exhibiting smaller Pars orbitalis volumes. Dimensional measures of autism (SRS total raw score) and ADHD (DISYPS-II FBB-ADHD score) had no significant influence on the left Pars orbitalis volume. Both, ASD and ADHD tended to have an effect on cortical thickness or mean curvature, which did not survive correction for multiple comparisons. Conclusion: Our results underline that ADHD rather than ASD is associated with volume loss in the left inferior frontal gyrus (Pars orbitalis). This area might play a relevant role in modulating symptoms of inattention and/or impulsivity in ADHD. The effect of comorbid ADHD in ASD samples and vice versa, on cortical thickness and mean curvature, requires further investigation in larger samples.
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17. Ozgur BG, Aksu H, Eser E. {{Factors affecting quality of life of caregivers of children diagnosed with autism spectrum disorder}}. {Indian journal of psychiatry}. 2018; 60(3): 278-85.
Context: Since autism spectrum disorder (ASD) is a lifelong disease and because of its nature, the negative effects of the disease on the quality of life (QoL) of caregivers as well as patients are incontrovertible. Aims: It was aimed to evaluate the effect of the variables related to both parents and children on the QoL scores of the parents of the children with ASD. Settings and Design: This is a causality analysis study. Subjects and Methods: Questionnaire on sociodemographic/disease-related variables, QoL in Autism Questionnaire-Parent Version (QoLA-P), autism behavior checklist and Clinical Global Impression scale were assessed of 162 patients with ASD. Statistical Analysis Used: Unpaired t- test, Mann-Whitney U test, Kruskal-Wallis test, and one-way ANOVA test were used for comparing groups. The parameters found to be statistically significant for QoLA-P in different analyses were included as the independent variable in the logistic regression analysis. The backward (variable elimination) model was selected as the model in the analysis. Results: The causality has been established may be stated as the severity of autism, the presence of psychiatric disorder in the mother/father, attendance of the child at school, duration since the diagnosis of autism, and the child’s medication use. Conclusions: Autism affects the QoL of caregivers. The intervention of treatment by considering the factors that affect the QoL positively or negatively may increase the QoL of caregivers.
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18. Papp LM, Hartley SL. {{Child-present and child-themed marital conflict in daily life of parents of children with and without autism spectrum disorder}}. {Developmental psychology}. 2018.
Parents of 5- to 12-year-old children (half had been diagnosed with autism spectrum disorder [ASD] and half were typically developing) provided reports of the most significant marital conflict of the day and ratings of child behaviors problems on a daily basis for 14 days. Mothers and fathers in the ASD group reported having more conflicts in daily life with any children present and more conflicts with the target child present than their counterparts with typically developing children did. Fathers (but not mothers) in the ASD group reported more conflicts as including child-related themes, although parents across the groups did not differ in their reporting marital conflict that specifically discussed the study’s target child. Results from multilevel modeling revealed within-person associations between child presence during marital conflict and parents’ emotions; specifically, child presence was related to lower dyadic positivity and higher dyadic anger, according to both mothers and fathers. In addition, results identified significant, positive within-person associations between child presence during marital conflict and discussing certain conflict topics (increased likelihoods of discussing any children and the study’s target children). These direct associations were found consistently across mothers’ and fathers’ reports, and did not vary across ASD and comparison families. Multilevel models focused on implications of the marital conflict for the study’s target children generally found child presence during conflict and discussion of child-themed conflict topics to predict higher levels of behavior problems in daily life. One moderating effect was identified, with child presence during conflict related to higher behavior problems according to mothers in the ASD group but not those in the comparison group. (PsycINFO Database Record (c) 2018 APA, all rights reserved).
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19. Penuelas-Calvo I, Sareen A, Sevilla-Llewellyn-Jones J, Fernandez-Berrocal P. {{The « Reading the Mind in the Eyes » Test in Autism-Spectrum Disorders Comparison with Healthy Controls: A Systematic Review and Meta-analysis}}. {Journal of autism and developmental disorders}. 2018.
We conducted a meta-analysis of 18 studies to establish whether a relation exists between Reading the Mind in the Eye Test (RMET) performance and intelligence quotient (IQ) in individuals diagnosed with autism-spectrum disorders (ASD) and controls, taking into account relevant characteristics such as age, gender, and autism quotient. Our findings indicate that RMET performance was better in controls compared with those diagnosed with ASD. We found that RMET performance is dependent on full and verbal IQ and age in controls. However, RMET performance is negatively correlated with performance IQ in individuals diagnosed with ASD. These results suggest that the methodology applied by ASD when taking the RMET is different from control individuals and might depend less on verbal abilities.
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20. Rea HM, Factor RS, Swain DM, Scarpa A. {{The Association of the Broader Autism Phenotype with Emotion-Related Behaviors in Mothers of Children With and Without Autism Spectrum Traits}}. {Journal of autism and developmental disorders}. 2018.
Broader autism phenotype (BAP) characteristics (pragmatic language deficits, aloofness, and rigidity) are prevalent in families of individuals with autism spectrum disorder (ASD) and may influence emotion-related behaviors. The current study analyzed associations among BAP characteristics with emotion-related behaviors in mothers of children with and without ASD. Twenty-seven mothers completed BAP and emotion regulation (ER) questionnaires. Maternal affect was coded during an interaction task. BAP rigidity negatively correlated with the ER strategy reappraisal. BAP total and pragmatic scores positively correlated with observed negative affect. Associations remained significant in step-wise regressions that controlled for other BAPQ subscale scores. Findings suggest that pragmatic difficulties may interfere with positive mother-child interactions and mothers with high rigidity may benefit from learning adaptive ER strategies.
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21. Sandoval GM, Shim S, Hong DS, Garrett AS, Quintin EM, Marzelli MJ, Patnaik S, Lightbody AA, Reiss AL. {{Neuroanatomical abnormalities in fragile X syndrome during the adolescent and young adult years}}. {Journal of psychiatric research}. 2018; 107: 138-44.
Abnormal brain development and cognitive dysfunction have been reported both in children and in adults with fragile X syndrome (FXS). However, few studies have examined neuroanatomical abnormalities in FXS during adolescence. In this study we focus on adolescent subjects with FXS (N=54) as compared to age- and sex-matched subjects with idiopathic intellectual disability (Comparison Group) (N=32), to examine neuroanatomical differences during this developmental period. Brain structure was assessed with voxel-based morphometry and independent groups t-test in SPM8 software. Results showed that the FXS group, relative to the comparison group, had significantly larger gray matter volume (GMV) in only one region: the bilateral caudate nucleus, but have smaller GMV in several regions including bilateral medial frontal, pregenual cingulate, gyrus rectus, insula, and superior temporal gyrus. Group differences also were noted in white matter regions. Within the FXS group, lower FMRP levels were associated with less GMV in several regions including cerebellum and gyrus rectus, and less white matter volume (WMV) in pregenual cingulate, middle frontal gyrus, and other regions. Lower full scale IQ within the FXS group was associated with larger right caudate nucleus GMV. In conclusion, adolescents and young adults with FXS demonstrate neuroanatomical abnormalities consistent with those previously reported in children and adults with FXS. These brain variations likely result from reduced FMRP during early neurodevelopment and mediate downstream deleterious effects on cognitive function.
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22. Sankey C, Derguy C, Clement C, Ilg J, Cappe E. {{Supporting Parents of a Child with Autism Spectrum Disorder: The French Awakening}}. {Journal of autism and developmental disorders}. 2018.
After being wrongfully blamed for their child’s disturbances, French parents of a child with autism spectrum disorder (ASD) are now perceived as essential partners of care professionals. This shift in perspective has encouraged the development of parent training programs in the field of autism. In this paper, we present three programs currently implemented in France for parents of a child with ASD. We investigated their social validity, from the parents’ perspective. All three programs showed good social validity: attendance rate was good and parents were satisfied. In France, like elsewhere, more parents should be given the opportunity to participate in such programs to help them deal with the specific challenges of raising a child with ASD.
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23. Stice LV, Lavner JA. {{Social Connectedness and Loneliness Mediate the Association Between Autistic Traits and Internalizing Symptoms Among Young Adults}}. {Journal of autism and developmental disorders}. 2018.
Adults with autism and subclinical autistic traits report greater internalizing problems than their peers, but the psychological processes underlying these associations are not well understood. The current study used structural equation modeling to examine whether social experiences (social connectedness and loneliness) mediate the link between autistic traits and internalizing symptoms among 821 college students. Those with higher total Broader Autism Phenotype Questionnaire (BAPQ) scores reported lower social connectedness, which related to greater loneliness, and, in turn, greater anxious and depressive symptoms. Relations with specific BAPQ subscales were also examined. Results indicate that, among young adults, stronger subclinical autistic traits relate to greater mental health and social difficulties and point to the important role of social experiences in mental health adjustment.
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24. Win-Shwe TT, Nway NC, Imai M, Lwin TT, Mar O, Watanabe H. {{Social behavior, neuroimmune markers and glutamic acid decarboxylase levels in a rat model of valproic acid-induced autism}}. {The Journal of toxicological sciences}. 2018; 43(11): 631-43.
Autism is a complex neurodevelopmental disorder characterized by impaired social communication and social interactions, and repetitive behaviors. The etiology of autism remains unknown and its molecular basis is not yet well understood. Pregnant Sprague-Dawley (SD) rats were administered 600 mg/kg of valproic acid (VPA) by intraperitoneal injection on day 12.5 of gestation. Both 11- to 13-week-old male and female rat models of VPA-induced autism showed impaired sociability and impaired preference for social novelty as compared to the corresponding control SD rats. Significantly reduced mRNA expressions of social behavior-related genes, such as those encoding the serotonin receptor, brain-derived neurotrophic factor and neuroligin3, and significantly increased expression levels of proinflammatory cytokines, such as interleukin-1 beta and tumor necrosis factor-alpha, were noted in the hippocampi of both male and female rats exposed to VPA in utero. The hippocampal expression level of gamma amino butyric acid (GABA) enzyme glutamic acid decarboxylase (GAD) 67 protein was reduced in both male and female VPA-exposed rats as compared to the corresponding control animals. Our results indicate that developmental exposure to VPA affects the social behavior in rats by modulating the expression levels of social behavior-related genes and inflammatory mediators accompanied with changes in GABA enzyme in the hippocampus.
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25. Zane E, Yang Z, Pozzan L, Guha T, Narayanan S, Grossman RB. {{Motion-Capture Patterns of Voluntarily Mimicked Dynamic Facial Expressions in Children and Adolescents With and Without ASD}}. {Journal of autism and developmental disorders}. 2018.
Research shows that neurotypical individuals struggle to interpret the emotional facial expressions of people with Autism Spectrum Disorder (ASD). The current study uses motion-capture to objectively quantify differences between the movement patterns of emotional facial expressions of individuals with and without ASD. Participants volitionally mimicked emotional expressions while wearing facial markers. Recorded marker movement was grouped by expression valence and intensity. We used Growth Curve Analysis to test whether movement patterns were predictable by expression type and participant group. Results show significant interactions between expression type and group, and little effect of emotion valence on ASD expressions. Together, results support perceptions that expressions of individuals with ASD are different from-and more ambiguous than-those of neurotypical individuals’.
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26. Zhang Q, Yang X, Wang J, Li J, Wu Q, Wen Y, Zhao Y, Zhang X, Yao H, Wu X, Yu S, Wei L, Bao X. {{Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort}}. {Genetics in medicine : official journal of the American College of Medical Genetics}. 2018.
PURPOSE: To determine the role of mosaicism in the pathogenesis and inheritance of Rett and Rett-like disorders. METHODS: We recruited 471 Rett and Rett-like patients. Panel-sequencing targeting MECP2, CDKL5, and FOXG1 was performed. Mosaicism was quantified in 147 patients by a Bayesian genotyper. Candidates were validated by amplicon sequencing and digital PCR. Germline mosaicism of 21 fathers with daughters carrying pathogenic MECP2 variants was further quantified. RESULTS: Pathogenic variants of MECP2/CDKL5/FOXG1 were found in 324/471 (68.7%) patients. Somatic MECP2 mosaicism was confirmed in 5/471 (1.1%) patients, including 3/18 males (16.7%) and 2/453 females (0.4%). Three of the five patients with somatic MECP2 mosaicism had mosaicism at MECP2-Arg106. Germline MECP2 mosaicism was detected in 5/21 (23.8%) fathers. CONCLUSION: This is the first systematic screening of somatic and paternal germline MECP2 mosaicism at a cohort level. Our findings indicate that somatic MECP2 mosaicism contributes directly to the pathogenicity of Rett syndrome, especially in male patients. MECP2-Arg106 might be a mosaic hotspot. The high proportion of paternal germline MECP2 mosaicism indicates an underestimated mechanism underlying the paternal origin bias of MECP2 variants. Finally, this study provides an empirical foundation for future studies of genetic disorders caused by de novo variations of strong paternal origin.
